• 제목/요약/키워드: tandem repeats

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한국인에서의 도파민 수송체 유전자 다형성(Dopamine Transporter Gene(DAT1) Polymorphism)과 사회공포증과의 연관성에 관한 예비 연구 (Polymorphism of Dopamine Transporter Gene(DAT1) in Korean Social Phobia Patients:Preliminary Study)

  • 오강섭;윤형근;이민수
    • 생물정신의학
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    • 제11권2호
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    • pp.165-172
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    • 2004
  • Objective:Although polymorphism of dopamine transporter gene(DAT1) has been considered to be implicated in the pathogenesis of social phobia, previous investigations have been inconsistent and controversial. The authors investigated the relationship between DAT1 polymorphism and social phobia in Koreans. Methods:DAT1 and alleles of fifty subjects who met DSM-IV criterion of social phobia, and those of age- & sex- matched fifty normal controls in Korea were compared. Additionally, patients were grouped into generalized(33) and nongeneralized(17) types and DAT1 polymorphism was compared with that of age- & sex- matched controls. DAT1 with variable number of tandem repeats(VNTR) were determined by using polymerase chain reaction. To compare the distribution of the DAT1 polymorphism between different groups, Fisher's exact test was used. Results:There were no significant differences in either genotypic(p=0.451) or allelic(p=0.452) distributions between the social phobia patients and the controls. There also were no differences in genotypic distribution between subtypes of social phobia patients and the controls. Conclusion:We couldn't find any association between DAT1 polymorphism and social phobia. Further studies including larger number of samples and diverse clinical variables should be conducted to elucidate the present findings.

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초기 성인기 한국인에서 도파민 D4 수용체의 유전적 다형성, 기질특성, 음주행동 사이의 연관성 (The Association among the Genetic Polymorphism of Dopamine D4 Receptor, Temperament and Alcohol Drinking Behavior in Young Korean Adults)

  • 남영우;이상익;신철진;손정우;김시경
    • 생물정신의학
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    • 제18권2호
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    • pp.101-108
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    • 2011
  • Objectives The aim of this study is to explore the association among DRD4 polymorphism, temperament and alcohol drinking behavior of Koreans in their early adulthood. Method Participants were 172 healthy Korean adults (mean age $28.1{\pm}0.8$). Their temperament was assessed with the Temperament and Character Inventory (TCI) and their alcohol drinking behavior were evaluated with a self-reported questionnaire including the CAGE and the Korean version of Alcohol Use Disorder Identification Test (AUDIT-K). DRD4 exon III 48 base pair variable number of tandem repeats (VNTR) was genotyped by PCR. Results No significant association was found between DRD4 polymorphism and TCI temperament dimension (novelty seeking, harm avoidance, reward dependence, and persistence) as well as alcohol drinking behavior scales. However, novelty seeking was significantly associated with alcohol drinking behavior. The higher level of novelty seeking was associated with the higher severity index of drinking (B = -0.225, p < 0.001) and problematic alcohol use on the CAGE and AUDIT-K [Odds Ratio (OR) = 1.111, 95% Confidence Interval (CI) 1.021-1.209, p = 0.015, OR = 1.087, 95% CI 1.009-1.170, p = 0.028]. Conclusion In our study, while there is no significant association of DRD4 polymorphism with temperament and alcohol drinking behavior, novelty seeking affects problematic alcohol use. Results suggest that novelty seeking may play an important role in problematic alcohol use in young Korean adults.

Genetic Characteristics of 207 Microsatellite Markers in the Korean Population and in other Asian Populations

  • Choi, Su-Jin;Song, Hye-Kyung;Jeong, Jae-Hwan;Jeon, In-Ho;Yoon, Ho-Sung;Chung, Ki Wha;Won, Yong-Jin;Choi, Je-Yong;Kim, Un-Kyung
    • Molecules and Cells
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    • 제25권2호
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    • pp.301-304
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    • 2008
  • Microsatellites, short tandem repeats, are useful markers for genetic analysis because of their high frequency of occurrence over the genome, high information content due to variable repeat lengths, and ease of typing. To establish a panel of microsatellite markers useful for genetic studies of the Korean population, the allele frequencies and heterozygosities of 207 microsatellite markers in 119 unrelated Korean, Indian and Pakistani individuals were compared. The average heterozygosity of the Korean population was 0.71, similar to that of the Indian and Pakistani populations. More than 80% of the markers showed heterozygosity of over 0.6 and were valuable as genetic markers for genome-wide screening for disease susceptibility loci in these populations. To identify the allelic distributions of the multilocus genetic data from these microsatellite markers, the population structures were assessed by clustering. These markers supported, with the most probability, three clustering groups corresponding to the three geographical populations. When we assumed only two hypothetical clusters (K), the Korean population was separate from the others, suggesting a relatively deep divergence of the Korean population. The present 207 microsatellite markers appear to reflect the historical and geographical origins of the different populations as well as displaying a similar degree of variation to that seen in previously published genetic data. Thus, these markers will be useful as a reference for human genetic studies on Asians.

Relationship Between Antimetabolite Toxicity and Pharmacogenetics in Turkish Cancer Patients

  • Dogan, Mutlu;Karabulut, Halil G.;Tukun, Ajlan;Demirkazik, Ahmet;Utkan, Gungor;Yalcin, Bulent;Dincol, Dilek;Akbulut, Hakan;Icli, Fikri
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권4호
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    • pp.1553-1556
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    • 2012
  • Introduction: Antimetabolites may cause severe toxicity and even toxic death in cancer patients. Our aim was to evaluate the relationship between antimetabolite toxicity and pharmacogenetics in patients with severe clinical toxicity or alanine transaminase (ALT) elevation after fluorouracil (5FU), capecitabine or methotrexate administration. Patients and Methods: Cancer patients with severe antimetabolite toxicity were evaluated for methylenetetrahydrofolate reductase (MTHFR) gene C667T, thymidilate synthase (TS) gene 5´UTR variable number of tandem repeats (VNTR), dihydroprymidine dehydrogenase (DPYD) gene IVS14+1G/A, Xeroderma pigmentosum (XPD) gene Lys751Gln and X-ray repair cross-complementing group 1 (XRCC1) gene Arg399Gln polymorphisms. Results: Eighteen patients were enrolled, with a male/female ratio of 0.8. They had osteosarcoma in methotrexate group (n=7), gastrointestinal malignancies in 5FU group (n=9) and breast cancer in the capecitabine group (n=2). Mucositis and dermatitis occurred in all groups, together with ALT elevation in the methotrexate group and 2 toxic deaths were encountered. DPYD, TS, MTHFR, XPD and XRCC1 gene polymorphism rare allele frequencies were observed to be higher than in the general population. Conclusion: Pharmacogenetics might contribute to tailored therapy.

Development of RAPD-SCAR and RAPD-generated PCRRFLP Markers for Identification of Four Anguilla eel Species

  • Kim, Woo-Jin;Kong, Hee-Jeong;Kim, Young-Ok;Nam, Bo-Hye;Kim, Kyung-Kil
    • Animal cells and systems
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    • 제13권2호
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    • pp.179-186
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    • 2009
  • Discriminating between eel species of the genus Anguilla using morphological characteristics can be problematic, particularly in the glass eel and elver stages. In this study, sequence-characterized amplified region (SCAR) and polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) markers were developed for the identification of Anguilla japoniea, Anguilla btcoior bicaor. Anguilla rostrata, and Anguilla anguilla. Random amplified polymorphic DNA (RAPD) fragments from A. japoniea (362 bp), A. bicolor bicctor (375 bp), A. rostrata (375 bp), and A. anguilla (375 bp) were isolated, sequenced, and converted to SCAR markers. The principal difference between the SCARs of A. japoniea and the three other species is the absence of a 13 bp deletion in the A. japoniea SCAR. Specific PCR primers amplified a 290 bp fragment for A. japoniea and 303 bp fragments for A. bicolor bicoior. A. rostrata, and A. anguilla. Restriction enzyme digestion with Taql, Mael, and Tru9l yielded PCR-RFLP patterns with differences that, when analyzed together, are sufficient for distinguishing each of the four eel species. In addition, RAPD fragments for A. japoniea (577 bp), A. bicoior bicoor (540 bp), A. rostrata (540 bp), and A. anguilla (509 bp) were also isolated and sequenced. The A. japoniea, A. bicoior blcoior. A. rostrata, and A. anguilla PCR products contain ten, nine, nine, and eight tandem repeats, respectively, of a 37 bp sequence. These results suggest that SCAR and PCR-RFLP markers and repeat numbers for specific loci will be useful for the identification of these four Anguilla eel species.

Molecular cloning and characterization of an antigenic protein with a repeating region from clonorchis sinensis

  • Kim, Tae-Yun;Kang, Shin-Yong;Ahn, Il-Young;Cho, Seung-Yull;Hong, Sung-Jong
    • Parasites, Hosts and Diseases
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    • 제39권1호
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    • pp.57-66
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    • 2001
  • In the course of immunoscreening of Clonorchis sinensis cDNA library, a cDNA CsRP12 containing a tandem repeat was isolated. The cDNA CsRP 12 encodes two putative peptides of open reading frames (ORFs) 1 and 2 (CsRP12-1 and -2). The repetitive region is composed of 15 repeats of 10 amino acids. Of the two putative peptides, CsRP12-1 was proline-rich and found to have homologues in several organisms. Recombinant proteins of the putative peptides were bacterially produced and purified by an affinity chromatography Recombinant CsRP12-1 protein was recognized by sera of clonorchiasis patients and experimental rabbits, but recombinant CsRP 12-2 was not. One of the putative peptide, CsRP12-1, is designated CsPRA, proline-rich antigen of C. sinensis. Both the C-termini of CsRP12-1 and -2 were bacterially produced and analysed to show no antigenicity. Recombinant CsPRA protein showed high sensitivity and specificity. In experimental rabbits, IgG antibodies to CsPRA was produced between 4 and 8 weeks after the infection and decreased thereafter over one you. These results indicate that CsPRA is equivalent to a natural protein and a useful antigenic protein for serodiagnosis of human clonorchiasis.

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Homologous Expression and T3SS-Dependent Secretion of TAP-Tagged Xo2276 in Xanthomonas oryzae pv. oryzae Induced by Rice Leaf Extract and Its Direct In Vitro Recognition of Putative Target DNA Sequence

  • Kim, Seunghwan;Nguyen, Thi-Dieu-Hanh;Lee, Joohee;Hong, Myoung-Ki;Pham, Tan-Viet;Ahn, Yeh-Jin;Lee, Byoung-Moo;Han, Ye Sun;Kim, Dong-Eun;Kim, Jeong-Gu;Kang, Lin-Woo
    • Journal of Microbiology and Biotechnology
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    • 제23권1호
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    • pp.22-28
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    • 2013
  • Xo2276 is a putative transcription activator-like effector (TALE) in Xanthomonas oryzae pv. oryzae (Xoo). Xo2276 was expressed with a TAP-tag at the C-terminus in Xoo cells to enable quantitative analysis of protein expression and secretion. Nearly all TAP-tagged Xo2276 existed in an insoluble form; addition of rice leaf extracts from a Xoosusceptible rice cultivar, Milyang23, significantly stimulated secretion of TAP-tagged Xo2276 into the medium. In a T3SS-defective Xoo mutant strain, secretion of TAPtagged Xo2276 was blocked. Xo2276 is a Xoo ortholog of Xanthomonas campestris pv. vesicatoria (Xcv) AvrBs3 and contains a conserved DNA-binding domain (DBD), which includes 19.5 tandem repeats of 34 amino acids. Xo2276- DBD was expressed in E. coli and purified. Direct in vitro recognition of Xo2276-DBD on a putative target DNA sequence was confirmed using an electrophoretic mobility shift assay. This is the first study measuring the homologous expression and secretion of Xo2276 in vitro using rice leaf extract and its direct in vitro binding to the specific target DNA sequence.

Chromosome numbers and polyploidy events in Korean non-commelinids monocots: A contribution to plant systematics

  • JANG, Tae-Soo;WEISS-SCHNEEWEISS, Hanna
    • 식물분류학회지
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    • 제48권4호
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    • pp.260-277
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    • 2018
  • The evolution of chromosome numbers and the karyotype structure is a prominent feature of plant genomes contributing to or at least accompanying plant diversification and eventually leading to speciation. Polyploidy, the multiplication of whole chromosome sets, is widespread and ploidy-level variation is frequent at all taxonomic levels, including species and populations, in angiosperms. Analyses of chromosome numbers and ploidy levels of 252 taxa of Korean non-commelinid monocots indicated that diploids (ca. 44%) and tetraploids (ca. 14%) prevail, with fewer triploids (ca. 6%), pentaploids (ca. 2%), and hexaploids (ca. 4%) being found. The range of genome sizes of the analyzed taxa (0.3-44.5 pg/1C) falls well within that reported in the Plant DNA C-values database (0.061-152.33 pg/1C). Analyses of karyotype features in angiosperm often involve, in addition to chromosome numbers and genome sizes, mapping of selected repetitive DNAs in chromosomes. All of these data when interpreted in a phylogenetic context allow for the addressing of evolutionary questions concerning the large-scale evolution of the genomes as well as the evolution of individual repeat types, especially ribosomal DNAs (5S and 35S rDNAs), and other tandem and dispersed repeats that can be identified in any plant genome at a relatively low cost using next-generation sequencing technologies. The present work investigates chromosome numbers (n or 2n), base chromosome numbers (x), ploidy levels, rDNA loci numbers, and genome size data to gain insight into the incidence, evolution and significance of polyploidy in Korean monocots.

Application study of PCR additives to improve the split peaks in direct PCR

  • Kim, Joo-Young;Kim, Da-Hye;Park, Hyun-Chul;Jung, Ju Yeon;Jin, Gang-Nam;Hwang, In-Kwan;Kang, Pil-Won
    • 분석과학
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    • 제32권4호
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    • pp.155-162
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    • 2019
  • Analysis techniques using DNA profiling are widely used in various fields including forensic science and new technologies such as the Direct PCR amplification method are being developed continuously in order to acquire the DNA profiles efficiently. However, it has a limits such as non-specific amplification according to the quality of crime scene evidence samples. Especially, split peaks caused by excessive DNA samples are one of the important factors that could cause the debate to allow researchers to interpret the DNA profile results. In this study, we confirmed the occurrence rate of split peaks in each STR (short tandem repeats) locus of the $GlobalFiler^{TM}$ kit and investigated the possibility of improving the split peaks using several PCR additives such as DMSO (dimethylsulfoxide), $MgCl_2$, Betaine and Tween-20. As a result, we could make three groups according to the occurrence rate of split peaks in Direct PCR and it was confirmed that the ratio of split peaks could be reduced by DMSO (87.4 %), $MgCl_2$ (84.5 %) and Betaine (86.1 %), respectively. These results indicate that PCR additives such as DMSO, $MgCl_2$ and Betaine can be improve the split peaks in Direct PCR and thereby facilitate subsequently a successful DNA profile results.

형광 리포터를 활용한 효모 단백질 잡종 기법 개발 (Yeast two-hybrid assay with fluorescence reporter)

  • 박성균;서수련;황병준
    • 미생물학회지
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    • 제55권3호
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    • pp.199-205
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    • 2019
  • Yeast two-hybrid는 특정 단백질에 대한 상호작용 파트너 단백질의 선별을 위한 방법으로 개발되었다. 하지만 대규모 단백질 상호작용체 분석을 수행하기에 요구되는 노동과 대량의 한천배지 사용에 따른 문제에 의해 널리 사용되지 못하고 있다. 따라서 본 연구에서는 새로운 리포터 시스템을 yeast two-hybrid 방법에 도입하여 fluorescence-activated cell sorting (FACS) 또는 magnetic-activated cell sorting (MACS)를 이용하여 상호작용 파트너 단백질을 포함하는 효모 클론을 손쉽게 선별할 수 있도록 하였다. 새로운 리포터 시스템은 c-myc 항원 결정기가 총 10번 반복되는 형태로 효모 표면에 발현되도록 하였으며, p53과 SV40 T항원을 이용한 실험을 통하여 리포터 단백질의 정상적인 발현을 flow cytometry 분석을 통하여 확인하였다. 따라서, 새로운 리포터 시스템을 도입한 yeast two-hybrid 방법은 대규모 상호작용체 분석을 위해 필요한 노력을 현저히 줄일 수 있을 것으로 기대한다.